Varaico: Literature-Extracted Genetic Variants

Gene:TYR
Variant:p.E114K

TYR

1,200 papers

RefSeq Summary

The enzyme encoded by this gene catalyzes the first 2 steps, and at least 1 subsequent step, in the conversion of tyrosine to melanin. The enzyme has both tyrosine hydroxylase and dopa oxidase catalyt...

Pfam Domains

Tyrosinaseaa 170–403UCSCCommon central domain of tyrosinase

Gene Aliases

HGNC Name

tyrosinase

HGNC Alias Symbols

OCAIA; OCA1A; OCA1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000372.5
p.E114K
c.340G>A
Surrounding Variants
1 paper
NM_000372.5
p.E114delFs
c.341delA
1 paper
NM_000372.5
p.E114fs
c.340_341fs
1 paper
NM_000372.5
p.E114A
c.341A>C
1 paper
NM_000372.5
p.E114G
c.341A>G
1 paper
NM_000372.5
p.T113insFs
c.338_339insAG
1 paper
NM_000372.5
p.T113I
c.338C>T
5 papers
NM_000372.5
p.R115delFs
c.344_345delGA
1 paper
NM_000372.5
p.T113P
c.337A>C
1 paper
NM_000372.5
p.T113A
c.337A>G
1 paper
NM_000372.5
p.R115G
c.343A>G
1 paper
NM_000372.5
p.R115*
c.343A>T
1 paper
NM_000372.5
p.T113fs
c.337_338fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."